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Kinase Fusion Gene:PTK6_GID8 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: PTK6_GID8 | KinaseFusionDB ID: KFG5161 | FusionGDB2.0 ID: KFG5161 | Hgene | Tgene | Gene symbol | PTK6 | GID8 | Gene ID | 5753 | 54994 | |
| Gene name | protein tyrosine kinase 6 | GID complex subunit 8 homolog | ||||||||||
| Synonyms | BRK | C20orf11|TWA1 | ||||||||||
| Cytomap | 20q13.33 | 20q13.33 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | protein-tyrosine kinase 6PTK6 protein tyrosine kinase 6breast tumor kinaseprotein-tyrosine kinase BRKtyrosine-protein kinase BRK | glucose-induced degradation protein 8 homologprotein C20orf11two hybrid associated protein No. 1 with RanBPMtwo hybrid-associated protein 1 with RanBPM | ||||||||||
| Modification date | 20240411 | 20240305 | ||||||||||
| UniProtAcc | Q13882 | Q9NWU2 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000217185, ENST00000542869, | ENST00000266069, ENST00000497101, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: PTK6 [Title/Abstract] AND GID8 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | PTK6(62162099)-GID8(61572843), # samples:1 | |||||||||||
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | PTK6 | GO:0007260 | tyrosine phosphorylation of STAT protein | 16568091|17997837 |
| Hgene | PTK6 | GO:0016477 | cell migration | 15572663 |
| Hgene | PTK6 | GO:0061099 | negative regulation of protein tyrosine kinase activity | 15539407 |
| Kinase Fusion gene breakpoints across PTK6 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene breakpoints across GID8 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Source | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ChimerDB4 | TCGA-IN-7808-01A | PTK6 | chr20 | 62162099 | GID8 | chr20 | 61572843 |
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Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:62162099/:61572843) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PTK6 | GID8 |
| FUNCTION: Non-receptor tyrosine-protein kinase implicated in the regulation of a variety of signaling pathways that control the differentiation and maintenance of normal epithelia, as well as tumor growth. Function seems to be context dependent and differ depending on cell type, as well as its intracellular localization. A number of potential nuclear and cytoplasmic substrates have been identified. These include the RNA-binding proteins: KHDRBS1/SAM68, KHDRBS2/SLM1, KHDRBS3/SLM2 and SFPQ/PSF; transcription factors: STAT3 and STAT5A/B and a variety of signaling molecules: ARHGAP35/p190RhoGAP, PXN/paxillin, BTK/ATK, STAP2/BKS. Associates also with a variety of proteins that are likely upstream of PTK6 in various signaling pathways, or for which PTK6 may play an adapter-like role. These proteins include ADAM15, EGFR, ERBB2, ERBB3 and IRS4. In normal or non-tumorigenic tissues, PTK6 promotes cellular differentiation and apoptosis. In tumors PTK6 contributes to cancer progression by sensitizing cells to mitogenic signals and enhancing proliferation, anchorage-independent survival and migration/invasion. Association with EGFR, ERBB2, ERBB3 may contribute to mammary tumor development and growth through enhancement of EGF-induced signaling via BTK/AKT and PI3 kinase. Contributes to migration and proliferation by contributing to EGF-mediated phosphorylation of ARHGAP35/p190RhoGAP, which promotes association with RASA1/p120RasGAP, inactivating RhoA while activating RAS. EGF stimulation resulted in phosphorylation of PNX/Paxillin by PTK6 and activation of RAC1 via CRK/CrKII, thereby promoting migration and invasion. PTK6 activates STAT3 and STAT5B to promote proliferation. Nuclear PTK6 may be important for regulating growth in normal epithelia, while cytoplasmic PTK6 might activate oncogenic signaling pathways.; FUNCTION: Isoform 2 inhibits PTK6 phosphorylation and PTK6 association with other tyrosine-phosphorylated proteins. | FUNCTION: Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Acts as a positive regulator of Wnt signaling pathway by promoting beta-catenin (CTNNB1) nuclear accumulation (PubMed:28829046). {ECO:0000269|PubMed:28829046, ECO:0000269|PubMed:29911972}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of PTK6_GID8 |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| PTK6 | Q13882 | human | CTNNB1 | P35222 | Y142 | AVVNLINyQDDAELA | |
| PTK6 | Q13882 | human | ETV4 | P43268 | Y392 | KNRPAMNyDKLSRSL | Ets |
| PTK6 | Q13882 | human | STAP2 | Q9UGK3 | Y250 | PFLLDEDyEKVLGyV | |
| PTK6 | Q13882 | human | ARAP1 | Q96P48 | Y231 | PEFDDsDyDEVPEEG | |
| PTK6 | Q13882 | human | BCAR1 | P56945 | Y165 | PSPATDLyQVPPGPG | |
| PTK6 | Q13882 | human | CTNNB1 | P35222 | Y331 | LVNIMRTytyEkLLW | |
| PTK6 | Q13882 | human | PXN | P49023-2 | Y118 | VGEEEHVysFPNKQK | Paxillin |
| PTK6 | Q13882 | human | CTNNB1 | P35222 | Y64 | VDTsQVLyEWEQGFS | |
| PTK6 | Q13882 | human | PXN | P49023-2 | Y31 | FLSEETPySyPTGNH | |
| PTK6 | Q13882 | human | ARHGAP5 | Q13017 | Y1109 | kGysDEIyVVPDDsQ | RhoGAP_pG1_pG2 |
| PTK6 | Q13882 | human | PTK6 | Q13882 | Y447 | RLSSFtsyENPT___ | |
| PTK6 | Q13882 | human | PTK6 | Q13882 | Y342 | RLIKEDVyLsHDHNI | PK_Tyr_Ser-Thr |
| PTK6 | Q13882 | human | BCAR1 | P56945 | Y664 | EGGWMEDyDyVHLQG | CAS_C |
| PTK6 | Q13882 | human | CTNNB1 | P35222 | Y333 | NIMRTytyEkLLWTT | |
| PTK6 | Q13882 | human | AKT1 | P31749 | Y326 | EVLEDNDyGRAVDWW | Pkinase |
| PTK6 | Q13882 | human | AKT1 | P31749 | Y315 | tFCGtPEyLAPEVLE | Pkinase |
| PTK6 | Q13882 | human | STAT5B | P51692 | Y699 | tAkAVDGyVkPQIkQ |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| PTK6 | ID | Description | 0.00e+00 |
| PTK6 | GO:0060416 | response to growth hormone | 6.94e-04 |
| PTK6 | GO:0071375 | cellular response to peptide hormone stimulus | 2.78e-03 |
| PTK6 | GO:0007173 | epidermal growth factor receptor signaling pathway | 2.78e-03 |
| PTK6 | GO:0010631 | epithelial cell migration | 2.78e-03 |
| PTK6 | GO:1901653 | cellular response to peptide | 2.78e-03 |
| PTK6 | GO:0090132 | epithelium migration | 2.78e-03 |
| PTK6 | GO:0090130 | tissue migration | 2.78e-03 |
| PTK6 | GO:0002065 | columnar/cuboidal epithelial cell differentiation | 2.78e-03 |
| PTK6 | GO:0038127 | ERBB signaling pathway | 2.78e-03 |
| PTK6 | GO:0030879 | mammary gland development | 3.08e-03 |
| PTK6 | GO:0043434 | response to peptide hormone | 3.08e-03 |
| PTK6 | GO:0048732 | gland development | 3.17e-03 |
| PTK6 | GO:0001667 | ameboidal-type cell migration | 4.01e-03 |
| PTK6 | GO:0030856 | regulation of epithelial cell differentiation | 4.01e-03 |
| PTK6 | GO:0002053 | positive regulation of mesenchymal cell proliferation | 4.01e-03 |
| PTK6 | GO:0060396 | growth hormone receptor signaling pathway | 4.01e-03 |
| PTK6 | GO:0010634 | positive regulation of epithelial cell migration | 4.01e-03 |
| PTK6 | GO:0071378 | cellular response to growth hormone stimulus | 4.01e-03 |
| PTK6 | GO:0010464 | regulation of mesenchymal cell proliferation | 5.80e-03 |
| PTK6 | GO:1902176 | negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway | 6.22e-03 |
| PTK6 | GO:0071364 | cellular response to epidermal growth factor stimulus | 8.67e-03 |
| PTK6 | GO:2000008 | regulation of protein localization to cell surface | 8.67e-03 |
| PTK6 | GO:0010463 | mesenchymal cell proliferation | 8.81e-03 |
| PTK6 | GO:0031641 | regulation of myelination | 8.81e-03 |
| PTK6 | GO:0070849 | response to epidermal growth factor | 8.81e-03 |
| PTK6 | GO:1902175 | regulation of oxidative stress-induced intrinsic apoptotic signaling pathway | 8.81e-03 |
| PTK6 | GO:0043029 | T cell homeostasis | 8.86e-03 |
| PTK6 | GO:0043542 | endothelial cell migration | 1.05e-02 |
| PTK6 | GO:0010632 | regulation of epithelial cell migration | 1.13e-02 |
| PTK6 | GO:0008631 | intrinsic apoptotic signaling pathway in response to oxidative stress | 1.43e-02 |
| PTK6 | GO:0045787 | positive regulation of cell cycle | 1.52e-02 |
| PTK6 | GO:0034394 | protein localization to cell surface | 1.57e-02 |
| PTK6 | GO:0030858 | positive regulation of epithelial cell differentiation | 1.70e-02 |
| PTK6 | GO:0002067 | glandular epithelial cell differentiation | 1.70e-02 |
| PTK6 | GO:0002260 | lymphocyte homeostasis | 1.84e-02 |
| PTK6 | GO:0031016 | pancreas development | 1.87e-02 |
| PTK6 | GO:0050863 | regulation of T cell activation | 1.87e-02 |
| PTK6 | GO:0033077 | T cell differentiation in thymus | 2.16e-02 |
| PTK6 | GO:1903321 | negative regulation of protein modification by small protein conjugation or removal | 2.25e-02 |
| PTK6 | GO:0051492 | regulation of stress fiber assembly | 2.36e-02 |
| PTK6 | GO:0045638 | negative regulation of myeloid cell differentiation | 2.36e-02 |
| PTK6 | GO:1901874 | negative regulation of post-translational protein modification | 2.36e-02 |
| PTK6 | GO:0031400 | negative regulation of protein modification process | 2.36e-02 |
| PTK6 | GO:0048534 | hematopoietic or lymphoid organ development | 2.36e-02 |
| PTK6 | GO:0097306 | cellular response to alcohol | 2.51e-02 |
| PTK6 | GO:0110020 | regulation of actomyosin structure organization | 2.51e-02 |
| PTK6 | GO:0007015 | actin filament organization | 2.51e-02 |
| PTK6 | GO:0032231 | regulation of actin filament bundle assembly | 2.51e-02 |
| PTK6 | GO:0001776 | leukocyte homeostasis | 2.51e-02 |
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Related Drugs to PTK6_GID8 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning PTK6-GID8 and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to PTK6_GID8 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
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